Camptodactyly arthropathy coxa vara pericarditis syndrome
Camptodactyly arthropathy coxa vara pericarditis (CACP) syndrome is a rare condition principally characterised by
- congenital or early-onset camptodactyly and childhood-onset non-inflammatory arthropathy
- coxa vara deformity or other dysplasia associated with progressive hip disease
The arthropathy is non-inflammatory. Synovial fluid in CACP syndrome is typically viscous, clear, honey-coloured, and low in cell count (representing its non-inflammatory nature). Synovial histology shows little or no mononuclear infiltration. Mild thickening of the synovium is often present, and giant cells are occasionally seen.
It is thought to carry an autosomal recessive inheritance 3. A locus responsible for causing the CACP syndrome has been assigned to a 1.9-cM interval on human chromosome 1q25-31 by homozygosity mapping 1,7.
Described features include:
- camptodactyly: considered a universal feature, but may vary in severity and is not always obvious on radiographs
- coxa vara deformity in the pelvis with short femoral necks
- periarticular osteopenia: when detected in paediatric radiographs, this tends to be less marked than in those with juvenile idiopathic arthritis
- joint effusions may be apparent
- there can be smooth flattening of affected joint surfaces
- intraosseous fluid-filled herniations affecting the acetabulum that manifest on conventional radiographs as benign radiolucent acetabular lesions: considered a highly distinguishing feature 2
- squaring or flattening of the metacarpal and phalangeal heads in the hands
- the cervical spine tends to normal throughout the course of the disease
Some clinical and imaging features may overlap with that of juvenile idiopathic arthritis 2.
- 1. Bahabri SA, Suwairi WM, Laxer RM et-al. The camptodactyly-arthropathy-coxa vara-pericarditis syndrome: clinical features and genetic mapping to human chromosome 1. Arthritis Rheum. 1998;41 (4): 730-5. doi:10.1002/1529-0131(199804)41:4<730::AID-ART22>3.0.CO;2-Y - Pubmed citation
- 2. Offiah AC, Woo P, Prieur AM et-al. Camptodactyly-arthropathy-coxa vara-pericarditis syndrome versus juvenile idiopathic arthropathy. AJR Am J Roentgenol. 2005;185 (2): 522-9. AJR Am J Roentgenol (full text) - Pubmed citation
- 3. Choi BR, Lim YH, Joo KB et-al. Camptodactyly, arthropathy, coxa vara, pericarditis (CACP)syndrome: a case report. J. Korean Med. Sci. 2004;19 (6): 907-10. J. Korean Med. Sci. (link) - Free text at pubmed - Pubmed citation
- 4. Hugosson C, Bahabri S, Mcdonald P et-al. Radiological features in congenital camptodactyly, familial arthropathy and coxa vara syndrome. Pediatr Radiol. 1994;24 (7): 523-6. - Pubmed citation
- 5. Faivre L, Prieur AM, Le merrer M et-al. Clinical variability and genetic homogeneity of the camptodactyly-arthropathy-coxa vara-pericarditis syndrome. Am. J. Med. Genet. 2000;95 (3): 233-6. Am. J. Med. Genet. (link) - Pubmed citation
- 6. El-garf A, Mahmoud G, Gheith R et-al. Camptodactyly, arthropathy, coxa vara, and pericarditis syndrome among egyptians. J. Rheumatol. 2003;30 (5): 1081-6. J. Rheumatol. (link) - Pubmed citation
- 7. Bahabri SA, Suwairi WM, Laxer RM et-al. The camptodactyly-arthropathy-coxa vara-pericarditis syndrome: clinical features and genetic mapping to human chromosome 1. Arthritis Rheum. 1998;41 (4): 730-5. doi:10.1002/1529-0131(199804)41:4<730::AID-ART22>3.0.CO;2-Y - Pubmed citation